Asymmetric crying facies in the 22q11.2 deletion syndrome: implications for future screening

Abstract

Objective: Asymmetric crying facies (ACF) is congenital hypoplasia of the depressor anguli oris muscle characterized by asymmetry of lower lip depression during crying. This has an overall incidence of 0.6%. This study determines the incidence of ACF in a large population of patients with 22q11.2 deletion.

Patients and methods: A retrospective review of medical records on patients with a confirmed 22q11.2 deletion was undertaken.

Results: A total of 836 records were reviewed. Of these, 117 (14%) were noted to have ACF on physical examination. Within this latter group, palatal anomalies were common (77%), as was congenital heart disease (78%); however, these numbers did not differ significantly from their known prevalence in the 22q11.2 population.

Conclusions: We report a 14% incidence of ACF in patients with a 22q11.2 deletion, significantly higher than in the general population. We suggest, therefore, that newborns with ACF be referred for further screening for the 22q11.2 deletion syndrome.

Keywords: 22q11.2 deletion syndrome; asymmetric crying facies; congenital anomalies; screening—newborn.